PubMed Health⌕ Search

Biomedical subjects

T Kmieć

Publications and source records attributed to T Kmieć.

At least 19 recordsLinked to original sources
PubMed2001

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

One of the most frequent forms of Leigh syndrome (LS), a severe neurodegenerative, genetically heterogenous disease, is associated with cytochrome c oxidase (COX) deficiency. No mutations in any of the 13 polypeptide subunits of human COX have been detected in LS patients. Recently, SURF1, a positional candidate gene for LS has been identified on chromosome 9q34. We present the identification of SURF1 mutations in a randomly chosen group of Polish patients with a classical form of LS. Sequence analysis revealed the presence of a novel 704T-->C transition (Met235Thr), and two recurrent dinucleotide deletions (758delCA, 845delCT), as well as one novel polymorphic 573C-->G transversion (Thr191Thr). 845delCT was identified in 66% of all our patients in homozygous or heterozygous form. Our study confirms the recent observations that SURF1 is consistently involved in disorders of the mitochondrial respiratory chain in patients with typical Leigh syndrome.

Journal Article↗
PubMed2000

[Gabitril as an additive drug in therapy of intractable epileptic seizures in children].

Tiagabine (Gabitril, Sanofi Synlhelabo) new antiepileptic drug was used in add-on therapy in 25 children with resistant partial complex and secondary generalized seizures. Treatment was carried out in children aged 4-17 years with low dose escalation from 5 to 45 mg/day, in three doses until good clinical effects were obtained. In 3 patients aged 4 years, in 11 children aged 5-12 years and in 11 children aged above 17 years Gabitril was used. Follow up period was 8-10 months. Frequency of epileptic seizures before implementation of Gabitril treatment, even during polytherapy with 2 or more antiepileptic drugs was several to hundred per day (status epilepticus was observed in 2 children with Rasmussen syndrome). During the observation 5 children became seizure free, in 11 patients reduction in seizures frequency above 50% was observed and in 9 children effects of treatment were not good enough. Gabitril was well tolerated, and any adverse events were observed in add-on therapy. Preliminary observation and good results of add-on therapy with Gabitril are positive. Drug is safe and generally well-tolerated with good effects at add-on therapy in 64% children with resistant partial complex and secondary generalized seizures.

Adolescent↗
PubMed1994

[Extrapyramidal diseases in children--clinical problems regarding etiopathogenesis and epidemiology].

Clinical picture, etiopathogenesis and epidemiological analysis were performed on the extrapyramidal diseases of the children. Despite of advances in neurology and on the own observations etiopathogenesis of these syndromes remains unexplained. The abnormalities neurotransmitters of the brain is the main cause abnormal function of the basal ganglia. The various categories extrapyramidal syndromes are known, but a variety of intermediate forms have been described. The diagnosis extrapyramidal diseases in children despite recent advances in neurology and genetic remains very difficult.

Adolescent↗
PubMed1993

The impaired transcription factor AP-1 DNA binding activity in lymphocytes derived from subjects with some symptoms of premature aging.

The study of human disorders known as premature aging syndromes may provide insight into the mechanisms of cellular senescence. The main feature of cellular senescence in vitro is cessation of cell proliferation. Down syndrome (DS) and neuronal ceroid-lypofuscinosis (NCL) are clinically characterized by the premature onset of numerous features normally associated with human aging. Phytohemagglutinin stimulated lymphocytes derived from DS subjects showed a statistically significant diminished proliferation capacity in comparison with lymphocytes derived from NCL and healthy individuals. We demonstrated, by applying the electrophoretic mobility shift assay, slightly impaired AP-1 DNA binding activity in NCL lymphocytes and strong in DS ones. Our results showed that the same molecular mechanisms of proliferation cessation could exist in fibroblasts characterized by replicative senescence and in lymphocytes derived from individuals with premature aging syndromes (Down).

Adolescent↗
PubMed1989

[Results of using Dorsiflex in various neurologic diseases in children].

Therapeutic results are described obtained with the preparation Dorsiflex produced by the Yugoslav institution Lek Ljubliana. The drug was given to 40 children aged 8 to 14 years with various neurological diseases with muscle hypertonus as the prevailing sign. The preparation was found to exert a good myorelaxant effect, facilitating comprehensive rehabilitation in cases in infantile cerebral palsy, after craniocerebral injuries, encephalomeningitis, degenerative diseases and other conditions. The drug was well tolerated.

Adolescent↗